Seki A, Nishino I, Goto Y, Maegaki Y, Koeda T
Division of Child Neurology; Institute of Neurological Sciences; Faculty of Medicine; Tottori University; Japan.
Pediatr Neurol. 1997 Sep;17(2):161-4. doi: 10.1016/s0887-8994(97)00080-5.
A 16-year-old boy with mitochondrial encephalomyopathy had seizures, short stature, muscle weakness, progressive hearing loss, mental retardation, and myoclonus. His cranial computed tomography showed progressive calcification in the basal ganglia and cerebral atrophy. Muscle biopsy revealed many ragged-red fibers with variable cytochrome c oxidase activity and some strongly succinate dehydrogenase-reactive blood vessels. Sequence analysis of the entire mitochondrial DNA revealed a novel point mutation in the tRNA-Thr gene at nucleotide pair 15915. Serum lactate levels were decreased by high-dose coenzyme Q10 (CoQ10) therapy. The spectral power density, a parameter of background activity on electroencephalography, was markedly improved after additional administration of idebenone. After initiation of combined CoQ10 and idebenone therapy, the clinical abnormalities did not progress for 16 months.
一名患有线粒体脑肌病的16岁男孩出现癫痫发作、身材矮小、肌肉无力、进行性听力丧失、智力发育迟缓以及肌阵挛。他的头颅计算机断层扫描显示基底节区进行性钙化和脑萎缩。肌肉活检发现许多破碎红纤维，细胞色素c氧化酶活性各异，还有一些琥珀酸脱氢酶反应强烈的血管。对整个线粒体DNA进行序列分析，发现在tRNA - Thr基因的核苷酸对15915处有一个新的点突变。高剂量辅酶Q10（CoQ10）治疗可降低血清乳酸水平。在额外给予艾地苯醌后，脑电图背景活动参数频谱功率密度明显改善。开始联合使用CoQ10和艾地苯醌治疗后，临床异常情况在16个月内未进展。
